ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.754+1G>A

dbSNP: rs868732642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092642 SCV001249250 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204062 SCV001375250 pathogenic Neuronal ceroid lipofuscinosis 7 2023-09-29 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects a donor splice site in intron 8 of the MFSD8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MFSD8 are known to be pathogenic (PMID: 19177532, 25227500, 28586915). Disruption of this splice site has been observed in individuals with variant late-infantile neuronal ceroid lipofuscinosis (vLINCL) (PMID: 17564970, 19201763, 21990111). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 872266). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001706719 SCV001934341 pathogenic Macular dystrophy with central cone involvement 2020-11-30 criteria provided, single submitter clinical testing This variant was identified as homozygous.

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